Variant report

Variant	rs192387374
Chromosome Location	chr1:241992148-241992149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr1:241991992-241992350	U2OS	brain:	n/a	n/a
2	CEBPB	chr1:241991946-241992181	K562	blood:	n/a	n/a
3	MAFK	chr1:241991950-241992273	IMR90	lung:	n/a	chr1:241992153-241992163
4	E2F4	chr1:241992009-241992190	MCF10A-Er-Src	breast:	n/a	n/a
5	MAFK	chr1:241992082-241992150	HepG2	liver:	n/a	n/a
6	FOS	chr1:241991968-241992277	MCF10A-Er-Src	breast:	n/a	chr1:241992156-241992163 chr1:241992155-241992163 chr1:241992155-241992163
7	TCF7L2	chr1:241991978-241992467	Hela-S3	cervix:	n/a	n/a
8	MYC	chr1:241992057-241992157	MCF10A-Er-Src	breast:	n/a	n/a
9	REST	chr1:241991839-241992533	H1-neurons	neurons:	n/a	n/a
10	REST	chr1:241991703-241992510	H1-neurons	neurons:	n/a	n/a
11	CEBPB	chr1:241991845-241992225	Hela-S3	cervix:	n/a	n/a
12	FOS	chr1:241991919-241992312	MCF10A-Er-Src	breast:	n/a	chr1:241992156-241992163 chr1:241992155-241992163 chr1:241992155-241992163
13	FOS	chr1:241992011-241992260	MCF10A-Er-Src	breast:	n/a	chr1:241992156-241992163 chr1:241992155-241992163 chr1:241992155-241992163
14	MAZ	chr1:241991869-241992290	IMR90	lung:	n/a	chr1:241992154-241992163
15	RCOR1	chr1:241991944-241992341	K562	blood:	n/a	n/a
16	STAT3	chr1:241991949-241992230	MCF10A-Er-Src	breast:	n/a	chr1:241992068-241992079
17	STAT3	chr1:241991997-241992234	MCF10A-Er-Src	breast:	n/a	chr1:241992068-241992079
18	MAFK	chr1:241992039-241992290	K562	blood:	n/a	chr1:241992153-241992163
19	STAT3	chr1:241991904-241992257	MCF10A-Er-Src	breast:	n/a	chr1:241992068-241992079
20	MAFK	chr1:241991940-241992212	Hela-S3	cervix:	n/a	chr1:241992153-241992163
21	JUND	chr1:241991970-241992272	K562	blood:	n/a	chr1:241992156-241992163 chr1:241992155-241992163 chr1:241992155-241992163
22	MYC	chr1:241992082-241992197	MCF10A-Er-Src	breast:	n/a	chr1:241992154-241992163
23	POLR2A	chr1:241991879-241992487	H1-neurons	neurons:	n/a	n/a
24	STAT3	chr1:241991906-241992229	MCF10A-Er-Src	breast:	n/a	chr1:241992068-241992079
25	GATA2	chr1:241992101-241992434	SH-SY5Y	brain:	n/a	n/a
26	POLR2A	chr1:241991913-241992515	H1-neurons	neurons:	n/a	n/a
27	FOS	chr1:241991932-241992286	MCF10A-Er-Src	breast:	n/a	chr1:241992156-241992163 chr1:241992155-241992163 chr1:241992155-241992163

Variant related genes	Relation type
ENSG00000229022	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv918034	chr1:241072791-242005532	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv997966	chr1:241100739-242087629	Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1002214	chr1:241458939-242099790	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv873368	chr1:241533392-242195928	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv528015	chr1:241865219-242070731	Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008300	chr1:241886514-242171611	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv2762521	chr1:241891040-242074222	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv873373	chr1:241939069-242027500	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv873374	chr1:241975147-242097624	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv945406	chr1:241992115-241996420	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:241989000-241992400	Enhancers	Fetal Brain Male	brain
2	chr1:241989600-241992600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:241990800-241992400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:241991200-241992200	Weak transcription	Aorta	Aorta
5	chr1:241991600-241992400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:241991600-241992600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:241991800-241992400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:241991800-241992400	Enhancers	NHLF	lung
9	chr1:241991800-241992800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:241992000-241992200	Flanking Active TSS	HSMMtube	muscle
11	chr1:241992000-241992200	Flanking Active TSS	K562	blood
12	chr1:241992000-241992400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:241992000-241992400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:241992000-241992400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:241992000-241992400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:241992000-241992400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:241992000-241992400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:241992000-241992400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:241992000-241992400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:241992000-241992400	Enhancers	Brain Germinal Matrix	brain
21	chr1:241992000-241992400	Flanking Active TSS	Fetal Heart	heart
22	chr1:241992000-241992400	Enhancers	Left Ventricle	heart
23	chr1:241992000-241992400	Enhancers	Lung	lung
24	chr1:241992000-241992400	Enhancers	Ovary	ovary
25	chr1:241992000-241992400	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:241992000-241992400	Enhancers	Right Ventricle	heart
27	chr1:241992000-241992400	Flanking Active TSS	A549	lung
28	chr1:241992000-241992400	Enhancers	HSMM	muscle
29	chr1:241992000-241992400	Enhancers	NH-A	brain
30	chr1:241992000-241992400	Enhancers	NHDF-Ad	bronchial
31	chr1:241992000-241992400	Enhancers	NHEK	skin
32	chr1:241992000-241992400	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links